Deafness, autosomal dominant 65

Preferred Label : Deafness, autosomal dominant 65;

Symbol : DFNA65;

CISMeF acronym : DFNA65;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0014);

Prefixed ID : #616044;

Details

Origin ID

616044;

UMLS CUI

C3892048;

CISMeF manual mappings
- autosomal dominant nonsyndromic deafness 65 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 65 [DO Concept]
Genes related to phenotype
- Tbc1 domain family, member 24 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Progressive hearing impairment [HPO term]
- Slowly progressive [HPO term]
- Vestibular dysfunction [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- TBC1 domain family member 24 [ORDO Gene]
- TBC1 domain family member 24 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 65 [DO Concept]

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